The Nabsys OhmX platform detected all pathogenic abnormalities identified by standard cytogenetic testing across five AML and CML bone marrow samples.
A proof-of-principle study led by researchers at Augusta University demonstrated 100% concordance between electronic genome mapping (EGM), standard-of-care cytogenetic methods, and optical genome mapping (OGM) in detecting clinically relevant structural variants and copy number variants in hematologic malignancies, according to a press release from Nabsys 2.0.
The study, published as a preprint on medRxiv, evaluated the Nabsys OhmX platform using previously characterized bone marrow aspirate specimens. Researchers compared EGM performance against routine karyotyping, fluorescence in situ hybridization (FISH), and OGM.
Detection Across Hematologic Malignancy Cohort
The evaluation included five patient specimens: four acute myeloid leukemia (AML) samples and one chronic myeloid leukemia (CML) sample representing multiple classes of chromosomal abnormalities, according to the release. Across all five samples, EGM detected all pathogenic abnormalities identified by standard cytogenetic testing and all corresponding genomic abnormalities detected by OGM.
According to the company, detected variants included BCR::ABL1 rearrangements, deletions, complex structural abnormalities, and whole-chromosome copy number changes such as trisomy 4, trisomy 21, and monosomy 7. The platform also identified smaller, difficult-to-detect alterations, including KMT2A partial tandem duplication (KMT2A-PTD), a variant associated with AML.
In one complex AML case, EGM provided structural and copy number characterization beyond findings from karyotyping and FISH, the release noted. EGM resolved a chromosome 20 abnormality as an intrachromosomal fusion while confirming an associated loss of 20q material, and identified an approximately 1.8 Mb loss at 7q22.1 that was not reported by karyotyping or FISH.
Cytogenomic Research and Scalability
“Our laboratory has extensive experience evaluating genome mapping in hematologic malignancies, and we were interested in understanding how an electronic approach would perform in well-characterized specimens,” says Ravindra Kolhe, MD, PhD, FCAP, professor and chair of the department of pathology at Augusta University, in a release. “In this initial five-sample proof-of-principle study, EGM detected all of the abnormalities identified by standard cytogenetic testing and OGM while also providing additional structural information in complex cases. These results support further evaluation of EGM in larger and more diverse cohorts.”
Barrett Bready, MD, founder and CEO of Nabsys, adds, “Genome mapping is an important tool for the cytogenomics and molecular genomics research communities. What is significant about this study is that EGM demonstrated complete concordance with both conventional cytogenetics and OGM methodologies.”
Electronic Nanofluidic Architecture
The OhmX platform uses proprietary EGM technology to analyze ultra-long DNA molecules electronically, according to Nabsys. Unlike optical mapping systems that depend on lasers, cameras, and optical instrumentation, EGM integrates electronic detection, nanofluidics, and computational biology into a compact platform designed to assess genome structure.
“We believe this technique has the potential to bring genome mapping into a more accessible and scalable format, and look forward to more publications across larger retrospective, prospective, and more diverse cohorts,” says Alka Chaubey, PhD, chief medical and genomics officer of Nabsys, in a release.
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